Variant report

Variant	esv16884
Chromosome Location	chr8:107512907-107513857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107511052..107513324-chr8:107531040..107533004,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570953946	chr8:107512918-107512919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs139899081	chr8:107512962-107512963	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538472300	chr8:107513033-107513034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549964566	chr8:107513035-107513036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568215151	chr8:107513039-107513040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180701346	chr8:107513073-107513074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535428334	chr8:107513129-107513130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553763459	chr8:107513130-107513131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1670396	chr8:107513173-107513174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139716187	chr8:107513199-107513200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558075797	chr8:107513209-107513210	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530450684	chr8:107513235-107513236	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576118431	chr8:107513241-107513242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs16874781	chr8:107513254-107513255	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150029681	chr8:107513267-107513268	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs561739598	chr8:107513337-107513338	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs535657261	chr8:107513338-107513339	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541163624	chr8:107513339-107513340	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs80323351	chr8:107513380-107513381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145430784	chr8:107513396-107513397	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533004066	chr8:107513455-107513456	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149218195	chr8:107513492-107513493	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575413011	chr8:107513508-107513509	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539574388	chr8:107513530-107513531	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117332805	chr8:107513559-107513560	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546400682	chr8:107513585-107513586	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545874431	chr8:107513590-107513591	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550368109	chr8:107513598-107513599	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566373741	chr8:107513603-107513604	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568178897	chr8:107513694-107513695	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535535015	chr8:107513695-107513696	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116979439	chr8:107513698-107513699	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555272071	chr8:107513742-107513743	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186448275	chr8:107513756-107513757	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574757641	chr8:107513766-107513767	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539833160	chr8:107513808-107513809	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16874782	chr8:107513836-107513837	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107503600-107513400	Weak transcription	Spleen	Spleen
2	chr8:107504000-107513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:107505800-107513400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:107509200-107513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:107510800-107513800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:107510800-107514400	Enhancers	Brain Hippocampus Middle	brain
7	chr8:107511600-107513200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:107511600-107513200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:107511600-107513600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:107511600-107514000	Enhancers	Fetal Kidney	kidney
11	chr8:107511600-107514400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:107511600-107514400	Enhancers	NHDF-Ad	bronchial
13	chr8:107511600-107514400	Enhancers	Osteobl	bone
14	chr8:107511600-107514600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:107511800-107514000	Enhancers	HMEC	breast
16	chr8:107512000-107513800	Enhancers	Brain Cingulate Gyrus	brain
17	chr8:107512200-107513200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:107512200-107513200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:107512200-107513200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:107512200-107513200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:107512200-107513400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:107512200-107513600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:107512200-107513800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:107512200-107514000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:107512200-107514600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:107512400-107513000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:107512400-107513400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:107512400-107513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:107512400-107513400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:107512400-107513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:107512400-107513400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:107512400-107513400	Weak transcription	Brain Substantia Nigra	brain
33	chr8:107512400-107513400	Enhancers	GM12878-XiMat	blood
34	chr8:107512400-107513600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:107512400-107513600	Enhancers	Brain Angular Gyrus	brain
36	chr8:107512400-107620200	Weak transcription	Aorta	Aorta
37	chr8:107512600-107513000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:107512600-107513000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:107512600-107513000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:107512600-107513000	Weak transcription	Brain Anterior Caudate	brain
41	chr8:107512600-107513000	Weak transcription	NH-A	brain
42	chr8:107512600-107517800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:107512800-107513000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:107512800-107514000	Enhancers	Adipose Nuclei	Adipose
45	chr8:107513000-107513400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:107513000-107513400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:107513000-107513600	Enhancers	NH-A	brain
48	chr8:107513000-107513800	Enhancers	NHLF	lung
49	chr8:107513000-107514000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr8:107513000-107514400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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